DOCSLIB.ORG

The Investigation of Hypocalcaemia and Rickets J Singh, N Moghal,Shspearce, T Cheetham

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
The Investigation of Hypocalcaemia and Rickets J Singh, N Moghal,Shspearce, T Cheetham 403 REVIEW Arch Dis Child: first published as 10.1136/adc.88.5.403 on 1 May 2003. Downloaded from The investigation of hypocalcaemia and rickets J Singh, N Moghal,SHSPearce, T Cheetham ............................................................................................................................. Arch Dis Child 2003;88:403–407 Our understanding of disorders that present with fluid is detected by this receptor, and leads to hypocalcaemia has advanced rapidly in the past enhanced PTH secretion by the parathyroid chief cell. PTH is the principle calcitropic peptide in decade. The molecular basis of many of these disorders humans; its effects on tissues like kidney, bone, and conditions associated with phosphate wasting has and intestine are primarily mediated through the now been established. While many children will need parathyroid hormone receptor (PTH/PTHrP receptor).6 These effects can be summarised as specialist involvement, they often will present to general follows: paediatricians, and appropriate investigations prior to • Increased reabsorption of calcium by the distal intervention will enable early diagnosis. Not all children renal tubule. with hypocalcaemia and low or low normal parathyroid • Mobilisation of calcium reserves from bone. hormone levels have isolated hypoparathyroidism, and • Enhanced 1 alpha hydroxylation of vitamin D to 1,25 dihydroxyvitamin D by the kidney. This clinicians need to be aware of the potential for in turn increases intestinal calcium absorption misdiagnosis. Outpatient departments and paediatric and serum calcium levels. wards should have a readily accessible and • Increased renal phosphate excretion. comprehensive list of bloods that need to be taken when a child presents with hypocalcaemia or rickets. HYPOCALCAEMIA AND RICKETS .......................................................................... Deficiency or impaired function of one of the three main determinants of circulating calcium concentrations outlined above (vitamin D, PTH, stablishing the diagnosis in patients with and the calcium sensing receptor) can lead to hypocalcaemia and rickets can be difficult. hypocalcaemia. The main causes of hypocalcae- EThere is a wide and expanding range of mia include: underlying disorders, some of which are ex- • Vitamin D deficiency tremely rare. Recognition and understanding of http://adc.bmj.com/ diseases such as hypocalcaemic hypercalciuria; • Impaired vitamin D metabolism hypoparathyroidism, deafness, and renal dyspla- • Calcium deficiency sia (HDR syndrome); autoimmune polyglandular • Reduced PTH production endocrinopathy with candidiasis and ectodermal dystrophy (APECED); and the various forms of • Impaired PTH action due to end organ resist- hypophosphataemic rickets has advanced consid- ance erably over the past decade and has made the • An abnormal calcium sensing receptor assessment of this patient group more • Impaired renal function. on October 1, 2021 by guest. Protected copyright. complex.1–4 While this area of practice may primarily be of interest to the subspecialist, the The above can influence calcium concentrations general paediatrician will be confronted with in the newborn period, but babies are also subject children with hypocalcaemia and rickets, and to insults that can affect calcium homoeostasis, knowledge of what constitutes an appropriate such as prematurity, asphyxia, and maternal investigation and management plan is important. hyperglycaemia. A definitive diagnosis will frequently not be made Rickets is a disorder of growing children in at the first encounter with the patient, but a com- which the newly formed bone matrix is not min- prehensive range of investigations before inter- eralised appropriately. It reflects a deficiency of vention will help to ensure that treatment is the bone constituents, calcium, and/or phosphate. appropriate. Some children with hypocalcaemia will be found See end of article for to have rickets, but not all children with rickets authors’ affiliations ....................... will be hypocalcaemic. Rickets can be classified according to the underlying pathology into three CALCIUM HOMOEOSTASIS Correspondence to: main groups: vitamin D deficiency, calcium Maintenance of serum calcium levels in the Dr T D Cheetham, deficiency, or phosphate deficiency. Department of Paediatrics, physiological range is a complex process that Royal Victoria Infirmary, reflects the function of, and interaction between, Queen Victoria Road, Newcastle upon Tyne vitamin D, parathyroid hormone (PTH), and the ................................................. NE1 4LP, UK; calcium sensing receptor. Abbreviations: [email protected] The calcium sensing receptor was characterised APECED, autoimmune polyglandular endocrinopathy with candidiasis and ectodermal in 19935 and is found on the cell surface of tissues Accepted dystrophy; HDR, hypoparathyroidism, deafness, and renal 5 October 2002 such as the parathyroid gland, kidney, and bone. dysplasia; PTH, parathyroid hormone; PTHrP, parathyroid ....................... A lowering of ionised calcium in extracellular hormone receptor www.archdischild.com 404 Singh, Moghal, Pearce, et al Vitamin D deficiency or resistance This may be caused by: Table 1 First and second line investigations in patients with hypocalcaemia and rickets Arch Dis Child: first published as 10.1136/adc.88.5.403 on 1 May 2003. Downloaded from • Dietary deficiency. • Lack of sunlight exposure. First line Second line • Malabsorption. Blood Calcium/phosphate Karyotype • Liver disease and drug associated dysfunction (e.g. pheny- Alkaline phosphatase Autoantibody screen toin), resulting in failure to 25 hydroxylate vitamin D. Electrolytes and creatinine Parental/sibling biochemistry • Renal pathology with significant tubular damage. The asso- Bicarbonate Maternal vitamin D status PTH Thyroid function ciated 1 alpha hydroxylase deficiency leads to a failure to 1 Magnesium hydroxylate vitamin D appropriately. Vitamin D • An inherited deficiency of 1 alpha hydroxylase due to “Save serum” defects in the 1 alpha hydroxylase gene (vitamin D depend- 7 Urine ent rickets type I). Calcium Low molecular weight proteins • End organ resistance to vitamin D (vitamin D dependent Phosphate rickets type II).8 This disorder is usually due to mutations in pH Protein the vitamin D receptor and can be associated with alopecia. Glucose Calcium deficiency Other investigations Dietary calcium deficiency without concomitant vitamin D Hand/wrist radiograph Renal ultrasound deficiency is described.910 EDTA sample for genetic studies Skull radiograph Phosphate deficiency This may be caused by: • Renal tubular loss because of specific genetic forms of renal phosphate wasting, such as hypophosphataemic rickets (X • Alkaline phosphatase levels. An appropriate, age related linked11–13 and dominant14 15 forms exist), as well as general- reference range should be used; an individual’s pubertal ised renal tubulopathies, such as Fanconi’s syndrome. status needs to be considered. Occasionally phosphate wasting can be associated with • PTH. benign or malignant tumours.16 17 • Plasma bicarbonate, looking for evidence of acidosis in • Inadequate phosphate intake, which is the main cause of association with Fanconi’s syndrome or renal tubular osteopenia of prematurity. acidosis. • Magnesium levels should always be checked in hypocalcae- PRESENTATION AND CLINICAL FEATURES mic patients. Severe hypomagnesaemia (<0.45 mmol/l) Hypocalcaemia may be an incidental finding, or it can result in causes hypocalcaemia by impairing PTH secretion as well as symptoms such as paraesthesia or cramps. Awareness of PTH action. hypocalcaemia as a cause of seizures is important because http://adc.bmj.com/ • Vitamin D (25-hydroxyvitamin D). children are still treated with anticonvulsants without serum calcium concentrations being checked. Children with congeni- • Save serum. This may be useful at a later date to measure tal heart defects and those with primary adrenal failure may 1,25 vitamin D if the picture suggests resistance to vitamin have their calcium concentrations measured routinely because D with high 25-hydroxy vitamin D levels. of the known association with hypoparathyroidism. Children The above investigations can usually be undertaken on 4–5 ml with rickets may present with limb deformity (both genu whole blood. varum and valgum), and in the case of the inherited forms of PTH undergoes cleavage to a variety of smaller peptides. rickets this is frequently noticed when the child starts to Only the N-terminal fragment has biological activity at the on October 1, 2021 by guest. Protected copyright. weight bear. Some children with vitamin D deficiency can PTH/PTHrP receptor, and the low circulating concentrations present with hypocalcemia without the typical skeletal combined with a short half life of 2–5 minutes mean that it phenotype.18 can be difficult to measure. The standard approach to determining circulating PTH concentrations uses a two site immunoassay (for example, the Nichols Advantage chemilu- AN INVESTIGATIVE APPROACH TO THE CHILD minescence immunoassay) which measures the intact pep- WITH HYPOCALCAEMIA AND RICKETS tide. Potassium/EDTA plasma or a serum (plain clotted) sam- A detailed history documenting diet, lifestyle, family, and drug ple should be collected and transported to the laboratory history, as well as development and hearing is important. The within one hour, or stored on ice if it is likely to be longer examination should include an assessment of skin, nails, before the sample is
Load more

Recommended publications
  • Rickets: Not a Disease of the Past LINDA S
    Rickets: Not a Disease of the Past LINDA S. NIELD, M.D., West Virginia University School of Medicine, Morgantown, West Virginia PRASHANT MAHAJAN, M.D., M.P.H., Wayne State University School of Medicine, Detroit, Michigan APARNA JOSHI, M.D., Children’s Hospital of Michigan, Detroit, Michigan DEEPAK KAMAT, M.D., PH.D., Wayne State University School of Medicine, Detroit, Michigan Rickets develops when growing bones fail to mineralize. In most cases, the diagnosis is established with a thorough his- tory and physical examination and confirmed by laboratory evaluation. Nutritional rickets can be caused by inadequate intake of nutrients (vitamin D in particular); however, it is not uncommon in dark-skinned children who have limited sun exposure and in infants who are breastfed exclusively. Vitamin D–dependent rickets, type I results from abnor- malities in the gene coding for 25(OH)D3-1-a-hydroxylase, and type II results from defective vitamin D receptors. The vitamin D–resistant types are familial hypophosphatemic rickets and hereditary hypophosphatemic rickets with hyper- calciuria. Other causes of rickets include renal disease, medications, and malabsorption syndromes. Nutritional rickets is treated by replacing the deficient nutrient. Mothers who breastfeed exclusively need to be informed of the recom- mendation to give their infants vitamin D supplements beginning in the first two months of life to prevent nutritional rickets. Vitamin D–dependent rickets, type I is treated with vitamin D; management of type II is more challenging. Familial hypophosphatemic rickets is treated with phosphorus and vitamin D, whereas hereditary hypophosphatemic rickets with hypercalciuria is treated with phosphorus alone.
    [Show full text]
  • Vitamin and Mineral Requirements in Human Nutrition
    P000i-00xx 3/12/05 8:54 PM Page i Vitamin and mineral requirements in human nutrition Second edition VITPR 3/12/05 16:50 Page ii WHO Library Cataloguing-in-Publication Data Joint FAO/WHO Expert Consultation on Human Vitamin and Mineral Requirements (1998 : Bangkok, Thailand). Vitamin and mineral requirements in human nutrition : report of a joint FAO/WHO expert consultation, Bangkok, Thailand, 21–30 September 1998. 1.Vitamins — standards 2.Micronutrients — standards 3.Trace elements — standards 4.Deficiency diseases — diet therapy 5.Nutritional requirements I.Title. ISBN 92 4 154612 3 (LC/NLM Classification: QU 145) © World Health Organization and Food and Agriculture Organization of the United Nations 2004 All rights reserved. Publications of the World Health Organization can be obtained from Market- ing and Dissemination, World Health Organization, 20 Avenue Appia, 1211 Geneva 27, Switzerland (tel: +41 22 791 2476; fax: +41 22 791 4857; e-mail: [email protected]). Requests for permis- sion to reproduce or translate WHO publications — whether for sale or for noncommercial distri- bution — should be addressed to Publications, at the above address (fax: +41 22 791 4806; e-mail: [email protected]), or to Chief, Publishing and Multimedia Service, Information Division, Food and Agriculture Organization of the United Nations, 00100 Rome, Italy. The designations employed and the presentation of the material in this publication do not imply the expression of any opinion whatsoever on the part of the World Health Organization and the Food and Agriculture Organization of the United Nations concerning the legal status of any country, territory, city or area or of its authorities, or concerning the delimitation of its frontiers or boundaries.
    [Show full text]
  • 341 Nutrient Deficiency Or Disease Definition/Cut-Off Value
    10/2019 341 Nutrient Deficiency or Disease Definition/Cut-off Value Any currently treated or untreated nutrient deficiency or disease. These include, but are not limited to, Protein Energy Malnutrition, Scurvy, Rickets, Beriberi, Hypocalcemia, Osteomalacia, Vitamin K Deficiency, Pellagra, Xerophthalmia, and Iron Deficiency. Presence of condition diagnosed, documented, or reported by a physician or someone working under a physician’s orders, or as self-reported by applicant/participant/caregiver. See Clarification for more information about self-reporting a diagnosis. Participant Category and Priority Level Category Priority Pregnant Women 1 Breastfeeding Women 1 Non-Breastfeeding Women 6 Infants 1 Children 3 Justification Nutrient deficiencies or diseases can be the result of poor nutritional intake, chronic health conditions, acute health conditions, medications, altered nutrient metabolism, or a combination of these factors, and can impact the levels of both macronutrients and micronutrients in the body. They can lead to alterations in energy metabolism, immune function, cognitive function, bone formation, and/or muscle function, as well as growth and development if the deficiency is present during fetal development and early childhood. The Centers for Disease Control and Prevention (CDC) estimates that less than 10% of the United States population has nutrient deficiencies; however, nutrient deficiencies vary by age, gender, and/or race and ethnicity (1). For certain segments of the population, nutrient deficiencies may be as high as one third of the population (1). Intake patterns of individuals can lead to nutrient inadequacy or nutrient deficiencies among the general population. Intakes of nutrients that are routinely below the Dietary Reference Intakes (DRI) can lead to a decrease in how much of the nutrient is stored in the body and how much is available for biological functions.
    [Show full text]
  • Magnesium Deficiency: a Possible Cause of Thiamine Refractoriness in Wernicke-Korsakoff Encephalopathy
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.37.8.959 on 1 August 1974. Downloaded from Journal of Neurology, Neurosurgery, and Psychiatry, 1974, 37, 959-962 Magnesium deficiency: a possible cause of thiamine refractoriness in Wernicke-Korsakoff encephalopathy D. C. TRAVIESA From the Department ofNeurology, University ofMiami School of Medicine, Miami, Florida, U.S.A. SYNOPSIS The determination of blood transketolase before and serially after thiamine administra- tion, and the response of clinical symptomatology after thiamine are reported in two normo- magnesaemic patients and one hypomagnesaemic patient with acute Wernicke-Korsakoff encephalopathy. The response of the depressed blood transketolase and the clinical symptoms was retarded in the hypomagnesaemic patient. Correction of hypomagnesaemia was accompanied by the recovery of blood transketolase activity and total clearing of the ophthalmoplegia in this patient, guest. Protected by copyright. suggesting that hypomagnesaemia may be a cause of the occasional thiamine refractoriness of these patients. Previous studies have shown that the clinical vestibular nuclei (Prickett, 1934; Dreyfus and entity of Wernicke-Korsakoff encephalopathy is Victor, 1961; Dreyfus, 1965). related to an exclusive deficiency of thiamine (Phillips et al., 1952). Furthermore, improvement Blood transketolase activity is markedly re- in clinical symptoms, once the syndrome has de- duced in patients with Wernicke-Korsakoff veloped, occurs only with the repletion of thi- encephalopathy and serial assays in these patients amine. It is this obvious and seemingly pure usually reveal a rapid and essentially complete causal relationship of thiamine deficiency and recovery of the reduced blood transketolase Wernicke-Korsakoff encephalopathy that neces- activity after the parental administration of sitates the total understanding of thiamine thiamine (Brin, 1962; Dreyfus, 1962).
    [Show full text]
  • Magnesium: the Forgotten Electrolyte—A Review on Hypomagnesemia
    medical sciences Review Magnesium: The Forgotten Electrolyte—A Review on Hypomagnesemia Faheemuddin Ahmed 1,* and Abdul Mohammed 2 1 OSF Saint Anthony Medical Center, 5666 E State St, Rockford, IL 61108, USA 2 Advocate Illinois Masonic Medical Center, 833 W Wellington Ave, Chicago, IL 60657, USA; [email protected] * Correspondence: [email protected] Received: 20 February 2019; Accepted: 2 April 2019; Published: 4 April 2019 Abstract: Magnesium is the fourth most abundant cation in the body and the second most abundant intracellular cation. It plays an important role in different organ systems at the cellular and enzymatic levels. Despite its importance, it still has not received the needed attention either in the medical literature or in clinical practice in comparison to other electrolytes like sodium, potassium, and calcium. Hypomagnesemia can lead to many clinical manifestations with some being life-threatening. The reported incidence is less likely than expected in the general population. We present a comprehensive review of different aspects of magnesium physiology and hypomagnesemia which can help clinicians in understanding, identifying, and treating this disorder. Keywords: magnesium; proton pump inhibitors; diuretics; hypomagnesemia 1. Introduction Magnesium is one of the most abundant cation in the body as well as an abundant intracellular cation. It plays an important role in molecular, biochemical, physiological, and pharmacological functions in the body. The importance of magnesium is well known, but still it is the forgotten electrolyte. The reason for it not getting the needed attention is because of rare symptomatology until levels are really low and also because of a lack of proper understanding of magnesium physiology.
    [Show full text]
  • VITAMIN DEFICIENCIES in RELATION to the EYE* by MEKKI EL SHEIKH Sudan VITAMINS Are Essential Constituents Present in Minute Amounts in Natural Foods
    Br J Ophthalmol: first published as 10.1136/bjo.44.7.406 on 1 July 1960. Downloaded from Brit. J. Ophthal. (1960) 44, 406. VITAMIN DEFICIENCIES IN RELATION TO THE EYE* BY MEKKI EL SHEIKH Sudan VITAMINS are essential constituents present in minute amounts in natural foods. If these constituents are removed or deficient such foods are unable to support nutrition and symptoms of deficiency or actual disease develop. Although vitamins are unconnected with energy and protein supplies, yet they are necessary for complete normal metabolism. They are, however, not invariably present in the diet under all circumstances. Childhood and periods of growth, heavy work, childbirth, and lactation all demand the supply of more vitamins, and under these conditions signs of deficiency may be present, although the average intake is not altered. The criteria for the fairly accurate diagnosis of vitamin deficiencies are evidence of deficiency, presence of signs and symptoms, and improvement on supplying the deficient vitamin. It is easy to discover signs and symptoms of vitamin deficiencies, but it is not easy to tell that this or that vitamin is actually deficient in the diet of a certain individual, unless one is able to assess the exact daily intake of food, a process which is neither simple nor practical. Another way of approach is the assessment of the vitamin content in the blood or the measurement of the course of dark adaptation which demon- strates a real deficiency of vitamin A (Adler, 1953). Both tests entail more or less tedious laboratory work which is not easy in a provincial hospital.
    [Show full text]
  • Pathogenesis and Diagnostic Criteria for Rickets and Osteomalacia
    Endocrine Journal 2015, 62 (8), 665-671 OPINION Pathogenesis and diagnostic criteria for rickets and osteomalacia —Proposal by an expert panel supported by Ministry of Health, Labour and Welfare, Japan, The Japanese Society for Bone and Mineral Research and The Japan Endocrine Society Seiji Fukumoto1), Keiichi Ozono2), Toshimi Michigami3), Masanori Minagawa4), Ryo Okazaki5), Toshitsugu Sugimoto6), Yasuhiro Takeuchi7) and Toshio Matsumoto1) 1)Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan 2)Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan 3)Department of Bone and Mineral Research, Research Institute, Osaka Medical Center for Maternal and Child Health, Izumi 594-1101, Japan 4)Department of Endocrinology, Chiba Children’s Hospital, Chiba 266-0007, Japan 5)Third Department of Medicine, Teikyo University Chiba Medical Center, Ichihara 299-0111, Japan 6)Internal Medicine 1, Shimane University Faculty of Medicine, Izumo 693-8501, Japan 7)Division of Endocrinology, Toranomon Hospital Endocrine Center, Tokyo 105-8470, Japan Abstract. Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations revealed that the causes for rickets and osteomalacia are quite variable. While these diseases can severely impair the quality of life of the affected patients, rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and osteomalacia, and propose the diagnostic criteria and a flowchart for the differential diagnosis of various causes for these diseases.
    [Show full text]
  • Mechanism of Hypokalemia in Magnesium Deficiency
    SCIENCE IN RENAL MEDICINE www.jasn.org Mechanism of Hypokalemia in Magnesium Deficiency Chou-Long Huang*† and Elizabeth Kuo* *Department of Medicine, †Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas, Texas ABSTRACT deficiency is likely associated with en- ϩ Magnesium deficiency is frequently associated with hypokalemia. Concomitant hanced renal K excretion. To support magnesium deficiency aggravates hypokalemia and renders it refractory to treat- this idea, Baehler et al.5 showed that ad- ment by potassium. Herein is reviewed literature suggesting that magnesium ministration of magnesium decreases ϩ deficiency exacerbates potassium wasting by increasing distal potassium secre- urinary K excretion and increases se- ϩ tion. A decrease in intracellular magnesium, caused by magnesium deficiency, rum K levels in a patient with Bartter releases the magnesium-mediated inhibition of ROMK channels and increases disease with combined hypomagnesemia potassium secretion. Magnesium deficiency alone, however, does not necessarily and hypokalemia. Similarly, magnesium ϩ cause hypokalemia. An increase in distal sodium delivery or elevated aldosterone replacement alone (without K ) in- ϩ levels may be required for exacerbating potassium wasting in magnesium creases serum K levels in individuals deficiency. who have hypokalemia and hypomag- nesemia and receive thiazide treatment.6 J Am Soc Nephrol 18: 2649–2652, 2007. doi: 10.1681/ASN.2007070792 Magnesium administration decreased urinary Kϩ excretion in these individuals (Dr. Charles Pak, personal communica- Hypokalemia is among the most fre- cin B, cisplatin, etc. Concomitant magne- tion, UT Southwestern Medical Center quently encountered fluid and electro- sium deficiency has long been appreci- at Dallas, July 13, 2007).
    [Show full text]
  • Nutritional Rickets: Vitamin D, Calcium, and the Genetic Make-Up
    nature publishing group Articles Translational Investigation Nutritional rickets: vitamin D, calcium, and the genetic make-up Mohamed El Kholy1, Heba Elsedfy1, Monica Fernández-Cancio2, Rasha Tarif Hamza1, Nermine Hussein Amr1, Alaa Youssef Ahmed1, Nadin Nabil Toaima1 and Laura Audí2 BACKGROUND: The prevalence of vitamin D (vitD) deficiency pigmentation are therefore main determinants of circulat- presenting as rickets is increasing worldwide. Insufficient sun ing vitD levels (2) that can be increased through dietary vitD exposure, vitD administration, and/or calcium intake are the intake (3). Interindividual differences in aspects of the vitD main causes. However, vitD system-related genes may also endocrine system have been well documented. They could be have a role. caused by genetic differences in important proteins in the vitD METHODS: Prospective study: 109 rachitic children com- endocrine system, such as VDR (4–6). pleted a 6-mo study period or until rachitic manifestations Multiple polymorphic variations exist in the VDR gene: disappeared. Thirty children were selected as controls. Clinical 5’-promoter variations can affect mRNA expression pat- and biochemical data were evaluated at baseline in patients terns and levels while 3’-UTR sequence variations can affect and controls and biochemistry re-evaluated at radiological mRNA stability and/or protein translation efficiency (7–10). healing. Therapy was stratified in three different protocols. Other genes encoding proteins in the vitD endocrine sys- Fifty-four single-nucleotide polymorphisms (SNPs) of five vitD tem (25-hydroxylase (CP2R1), 1-α-hydroxylase (CYP27B1), system genes (VDR, CP2R1, CYP27B1, CYP24A1, and GC) were 24-hydroxylase (CYP24A1), and vitamin D binding globulin genotyped and their association with clinical and biochemcial (GC)) also present polymorphic variations that could influ- data was analyzed.
    [Show full text]
  • A Retrospective Case Series of Thiamine Deficiency in Non
    Journal of Clinical Medicine Article A Retrospective Case Series of Thiamine Deficiency in Non-Alcoholic Hospitalized Veterans: An Important Cause of Delirium and Falling? Elisabeth Mates 1,2,* , Deepti Alluri 3, Tailer Artis 2 and Mark S. Riddle 1,2 1 Medicine Department, Veterans Affairs Sierra Nevada Healthcare System, Reno, NV 89502, USA; [email protected] 2 School of Medicine, University of Nevada, Reno, NV 89502, USA; [email protected] 3 Sound Physicians, Lutheran Hospital, Fort Wayne, IN 46804, USA; [email protected] * Correspondence: [email protected] Abstract: Thiamine deficiency (TD) in non-alcoholic hospitalized patients causes a variety of non- specific symptoms. Studies suggest it is not rare in acutely and chronically ill individuals in high income countries and is underdiagnosed. Our aim is to demonstrate data which help define the risk factors and constellation of symptoms of TD in this population. We describe 36 cases of TD in hospitalized non-alcoholic veterans over 5 years. Clinical and laboratory data were extracted by chart review +/− 4 weeks of plasma thiamine level 7 nmol/L or less. Ninety-seven percent had two or more chronic inflammatory conditions (CICs) and 83% had one or more acute inflammatory conditions (AICs). Of possible etiologies of TD 97% had two or more of: insufficient intake, inflammatory stress, or increased losses. Seventy-five percent experienced 5% or more weight loss. Ninety-two percent had symptoms with the most common being weakness or falling (75%) followed by neuropsychiatric Citation: Mates, E.; Alluri, D.; Artis, manifestations (72%), gastrointestinal dysfunction (53%), and ataxia (42%). We conclude that TD is T.; Riddle, M.S.
    [Show full text]
  • Thiamine and Magnesium Deficiencies
    Medical Hypotheses 84 (2015) 129–134 Contents lists available at ScienceDirect Medical Hypotheses journal homepage: www.elsevier.com/locate/mehy Thiamine and magnesium deficiencies: Keys to disease ⇑ D. Lonsdale Associate Emeritus, Cleveland Clinic, Cleveland, OH, United States article info abstract Article history: Thiamine deficiency (TD) is accepted as the cause of beriberi because of its action in the metabolism of Received 21 September 2014 simple carbohydrates, mainly as the rate limiting cofactor for the dehydrogenases of pyruvate and alpha- Accepted 6 December 2014 ketoglutarate, both being critical to the action of the citric acid cycle. Transketolase, dependent on thiamine and magnesium, occurs twice in the oxidative pentose pathway, important in production of reducing equivalents. Thiamine is also a cofactor in the dehydrogenase complex in the degradation of the branched chain amino acids, leucine, isoleucine and valine. In spite of these well accepted facts, the overall clinical effects of TD are still poorly understood. Because of the discovery of 2-hydroxyacyl- CoA lyase (HACL1) as the first peroxisomal enzyme in mammals found to be dependent on thiamine pyrophosphate (TPP) and the ability of thiamine to bind with prion protein, these factors should improve our clinical approach to TD. HACL1 has two important roles in alpha oxidation, the degradation of phy- tanic acid and shortening of 2-hydroxy long-chain fatty acids so that they can be degraded further by beta oxidation. The downstream effects of a lack of efficiency in this enzyme would be expected to be critical in normal brain metabolism. Although TD has been shown experimentally to produce reversible damage to mitochondria and there are many other causes of mitochondrial dysfunction, finding TD as the poten- tial biochemical lesion would help in differential diagnosis.
    [Show full text]
  • Characteristics of Rickets in a Referral Hospital in Khartoum-Sudan
    Journal of Pediatrics and Neonatal Care Research Article Open Access Characteristics of rickets in a referral hospital in Khartoum-Sudan Abstract Volume 8 Issue 5 - 2018 Rickets is a common disease among children with severe malnutrition; it may be Mohammed Abbas,1,3 Eltayeb Tayrab,2,5 associated with liver and renal failure as precipitating factors. Jowayria E Tayrab,6 Karimeldin Mohamed Ali Methods and materials: this study was done at JafarIbn Auf pediatric hospital, Sudan. Salih1,4 Fifty-four children with rickets were included. Clinical, radiological, laboratory, as 1Department of pediatrics, college of Medicine, University of well as socioeconomic status, were assessed. Bisha, Saudi Arabia 2Department of chemical pathology, Faculty of Medical Results: The mean age of the children with rickets was (22.3 ± 15.1 months), Laboratory Sciences, National Ribat University, Sudan 38(70.4%) of the children had low sunlight exposure, 45(83.3%) from low-income 3Department of pediatrics, Faculty of Medicine, Kassala families, 50(92.2%) were under weight, 25.9% were not breastfed, 41(75.9%) University, Sudan had ricketic rosary and 38(70.4%) had hand swelling. Out of all study population; 4Department of pediatrics, faculty of medicine, University of 51(94.4%) of them showed hypocalcemia associated with hypophosphatemia and Bahri, Sudan 50(92.6%) showed increased alkaline phosphatase levels. As risk factors; 8 (14.8%) 5Department of basic medical sciences, Faculty of Applied of the study population had liver failure, while 6 (11.1%) had renal failure Medical Sciences, University of Bisha, Saudi Arabia 6Department of pediatrics, Sudan Medical Specialization Board, Conclusion: Rickets in JafarIbn Auf pediatric hospital is associated with poverty and Khartoum, Sudan malnutrition as well as low sunlight exposure.
    [Show full text]